AQP5 (aquaporin 5)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
362
Gene name Gene Name - the full gene name approved by the HGNC.
Aquaporin 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AQP5
Synonyms (NCBI Gene) Gene synonyms aliases
AQP-5, PPKB
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q13.12
Summary Summary of gene provided in NCBI Entrez Gene.
Aquaporin 5 (AQP5) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 5 plays a role in the generation of saliva, tears and pulmonary secretions. AQP0, A
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(20)
miRTarBase ID miRNA Experiments Reference
MIRT018488 hsa-miR-335-5p Microarray 18185580
MIRT736082 hsa-miR-1271-5p Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), qRT-PCR 33760167
MIRT737185 hsa-miR-19b-3p Luciferase reporter assay, qRT-PCR 31922312
MIRT791541 hsa-miR-1258 CLIP-seq
MIRT791542 hsa-miR-3152-3p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(33)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 19060904, 25416956
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA 26569106
GO:0005886 Component Plasma membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600442 638 ENSG00000161798
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P55064
Protein name Aquaporin-5 (AQP-5)
Protein function Aquaporins form homotetrameric transmembrane channels, with each monomer independently mediating water transport across the plasma membrane along its osmotic gradient (PubMed:18768791, PubMed:8621489). Plays an important role in fluid secretion
PDB 3D9S , 5C5X , 5DYE , 7STC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00230 MIP 4 → 221 Major intrinsic protein Family
Tissue specificity TISSUE SPECIFICITY: Detected in skin eccrine sweat glands, at the apical cell membrane and at intercellular canaliculi (at protein level). {ECO:0000269|PubMed:23473857}.
Sequence
Sequence length 265
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Salivary secretion   Passive transport by Aquaporins
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Palmoplantar Keratoderma Palmoplantar keratoderma, Bothnian type rs398123054, rs398123055, rs398123056, rs398123057 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma N/A N/A GWAS
Nonepidermolytic palmoplantar keratoderma nonepidermolytic palmoplantar keratoderma N/A N/A GenCC
Show/Hide Text Mining Associations (73)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acute Kidney Injury Associate 30517197
Acute Lung Injury Associate 27835672
Adenocarcinoma Associate 19340551
Adenoma Associate 33423702
Breast Neoplasms Associate 22145049, 36468842, 36706090, 37681917, 40244097
Bronchitis Associate 26569106
Carcinogenesis Associate 23436048, 24224160
Carcinogenesis Stimulate 36372898
Carcinoma Bronchogenic Associate 14978691
Carcinoma Ductal Associate 22145049